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Homo sapiens acyl-CoA synthetase family member 3 (ACSF3), transcript variant 2, mRNA.

Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu01574 Homo sapiens acyl-CoA synthetase family member 3 (ACSF3), transcript variant 2, mRNA. pcDNA3.1+-DYK On-demand $219.00 7-9
OHu01574C Homo sapiens acyl-CoA synthetase family member 3 (ACSF3), transcript variant 2, mRNA. Customized vector On-demand $269.00 7-9

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Sequence Information ORF Nucleotide Sequence
Protein sequence
Vector pcDNA3.1+-DYK or customized vector
Clone information Clone Map
Tag on pcDNA3.1+-DYK N terminal DYKDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
RefSeq Version NM_001127214.3, 546232249
Length 1731 bp
Update Date 20-FEB-2014
Organism Homo sapiens (human)
Definition Homo sapiens acyl-CoA synthetase family member 3 (ACSF3), transcript variant 2, mRNA.
Product acyl-CoA synthetase family member 3, mitochondrial isoform 1 precursor

Summary: This gene encodes a member of the acyl-CoA synthetase family of enzymes that activate fatty acids by catalyzing the formation of a thioester linkage between fatty acids and coenzyme A. The encoded protein is localized to mitochondria, has high specificity for malonate and methylmalonate and possesses malonyl-CoA synthetase activity. Mutations in this gene are a cause of combined malonic and methylmalonic aciduria. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Sep 2013].

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 4 encode the same isoform (1).

Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.

##Evidence-Data-START## Transcript exon combination :: AK290963.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025083, ERS025090 [ECO:0000348] ##Evidence-Data-END##

##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta ##RefSeq-Attributes-END## COMPLETENESS: complete on the 3' end.

RefSeq NP_001120686.1
CDS 209..1939
Misc Feature(1)350..1915
Misc Feature(2)371..1906
Misc Feature(3)order(803..805,812..829,833..838)
Misc Feature(4)order(812..814,932..937,944..952,1085..1087,1091..1093,
Misc Feature(5)order(812..814,1202..1210,1265..1282,1340..1342,
Misc Feature(6)order(932..937,944..952,1085..1087,1091..1093,1103..1105,
Exon (1)1..188
Gene Synonym:ACSF3
Exon (2)189..874
Gene Synonym:ACSF3
Exon (3)875..1030
Gene Synonym:ACSF3
Exon (4)1031..1185
Gene Synonym:ACSF3
Exon (5)1186..1334
Gene Synonym:ACSF3
Exon (6)1335..1447
Gene Synonym:ACSF3
Exon (7)1448..1574
Gene Synonym:ACSF3
Exon (8)1575..1709
Gene Synonym:ACSF3
Exon (9)1710..1821
Gene Synonym:ACSF3
Exon (10)1822..3578
Gene Synonym:ACSF3
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Position Chain Variation Link
113+c, gdbSNP:145228567
193+a, gdbSNP:141490092
194..195+, cccaggaggctcccgggagdbSNP:11273288
194+c, gdbSNP:115469156
195..196+, ccaggaggctcccgggagcdbSNP:67522353
209+a, gdbSNP:370382601
213+c, tdbSNP:7188200
226+a, gdbSNP:375071176
236+c, tdbSNP:202182978
251+a, gdbSNP:375374971
257+c, gdbSNP:11547019
259+c, gdbSNP:7201122
324+a, gdbSNP:144711526
complement(328)-t, cdbSNP:34972688
337+c, tdbSNP:147915828
353+c, tdbSNP:141518662
354+a, gdbSNP:369499144
366+a, tdbSNP:373274928
379+c, tdbSNP:147044602
391+c, gdbSNP:202121474
398+a, gdbSNP:200536797
446+c, tdbSNP:138156311
459+a, gdbSNP:373476048
477+a, gdbSNP:148895267
478+c, tdbSNP:201113468
486+a, tdbSNP:143605434
493+a, gdbSNP:187962814
505+c, tdbSNP:59213357
514+c, tdbSNP:6500526
521+a, gdbSNP:145969050
523+c, tdbSNP:7193255
535+c, tdbSNP:141517318
536+a, gdbSNP:189821127
550+c, gdbSNP:6500527
562+c, tdbSNP:6500528
565+c, tdbSNP:182147718
566+a, gdbSNP:200703917
576..577+, acdbSNP:142006073
577+a, cdbSNP:6500529
595+c, tdbSNP:150050697
598+c, tdbSNP:368192538
599+a, gdbSNP:144411003
600+c, tdbSNP:148768970
607+a, gdbSNP:370968781
619+c, tdbSNP:148969539
626+a, gdbSNP:371131543
632+c, tdbSNP:142575695
664+c, tdbSNP:147899198
688+c, tdbSNP:375671065
714+c, tdbSNP:377732201
731+c, tdbSNP:141612994
735+a, cdbSNP:368696141
744+g, tdbSNP:374765592
753+c, tdbSNP:145470870
765+c, gdbSNP:376098216
769+c, tdbSNP:113731967
796+c, tdbSNP:373441358
801+g, tdbSNP:387907121
808+c, gdbSNP:147597284
825+c, tdbSNP:142038371
833+c, gdbSNP:201953109
841+c, tdbSNP:140941507
856+c, tdbSNP:377553361
880+c, tdbSNP:150374081
897+a, gdbSNP:145583876
929+a, gdbSNP:145141190
934+c, tdbSNP:377354800
936+c, tdbSNP:140986055
946+c, tdbSNP:112722289
947+a, gdbSNP:370666715
951+a, gdbSNP:144818342
963+a, gdbSNP:373246881
964+c, tdbSNP:147718091
1004+a, gdbSNP:141607995
1018+c, tdbSNP:143501853
1059+a, cdbSNP:373794208
1060+a, gdbSNP:183159791
1062+c, tdbSNP:143793502
1064+c, tdbSNP:148146761
1065+a, gdbSNP:371654377
1141+a, gdbSNP:150686471
1144+c, tdbSNP:202119269
1161+g, tdbSNP:200352879
1203+c, tdbSNP:373670668
1204+a, tdbSNP:75591977
1249+a, gdbSNP:376153659
1251+a, gdbSNP:371034681
1281+c, tdbSNP:387907120
1282+c, gdbSNP:374451559
1283+a, gdbSNP:150487794
1285+a, gdbSNP:376416767
1289+a, gdbSNP:145285434
1303+c, tdbSNP:148716626
1304+a, gdbSNP:142288136
1308+c, gdbSNP:151006784
1321+c, tdbSNP:201792144
1322+a, gdbSNP:3743979
1322+c, tdbSNP:386585286
1325+a, cdbSNP:144907664
1339+c, tdbSNP:138395741
1340+a, gdbSNP:369854705
1342+a, gdbSNP:141088268
1402+c, tdbSNP:371890371
1412+a, tdbSNP:367891462
1418+c, tdbSNP:374810485
1421+a, gdbSNP:189568082
1446+a, tdbSNP:201003194
1453+c, tdbSNP:374578722
1459+g, tdbSNP:3743984
1474+a, gdbSNP:150322170
1476+c, gdbSNP:370783227
1509+a, c, gdbSNP:137995833
1513+a, tdbSNP:375414491
1542+a, gdbSNP:142092069
1555+a, gdbSNP:12447947
1583+a, gdbSNP:200029061
1592+a, cdbSNP:370106289
1600+a, cdbSNP:200661983
1602+a, gdbSNP:200971130
1606+c, tdbSNP:200146632
1614+a, gdbSNP:144681140
1619+c, tdbSNP:138680796
1620+a, gdbSNP:387907119
1634+a, gdbSNP:373315212
1644+a, cdbSNP:187733270
1663+c, tdbSNP:377487769
1664+a, gdbSNP:192339782
1673+c, gdbSNP:377596983
1675+c, gdbSNP:115776284
1678+c, gdbSNP:147538370
1719+g, tdbSNP:76528704
1724+a, gdbSNP:141971462
1732+a, gdbSNP:375187216
1739+a, gdbSNP:150635495
1770+c, gdbSNP:201022212
1775+c, tdbSNP:387907118
1776+a, gdbSNP:369726475
1813+a, gdbSNP:139813770
1816+a, gdbSNP:201954387
1829+c, tdbSNP:149803422
1837+a, gdbSNP:146779456
1851+c, tdbSNP:139520739
1859+g, tdbSNP:143472008
1880+c, tdbSNP:141090143
1881+a, c, gdbSNP:140328142
1911+c, tdbSNP:142633119
1931+a, cdbSNP:370947288
1933+c, tdbSNP:373741441
1943+a, gdbSNP:184912682
1946+a, cdbSNP:192297922
1949+c, tdbSNP:199783009
1973+c, gdbSNP:183713754
1982+a, gdbSNP:111251955
1986+c, tdbSNP:201698539
2005+g, tdbSNP:146927450
2012+c, tdbSNP:79800328
2043..2044+, cdbSNP:367685264
2140+c, gdbSNP:199740112
2170+a, gdbSNP:1054747
2204+a, cdbSNP:113165822
2232+c, tdbSNP:376600438
2297..2298+, aaat, taaadbSNP:112906978
2297+c, tdbSNP:80327222
2298..2299+, aaatdbSNP:71712635
2300..2301+, taaadbSNP:60450866
2301+g, tdbSNP:76726674
2310+a, gdbSNP:72819317
2342+c, tdbSNP:188803327
2344+c, tdbSNP:151018123
2369+a, gdbSNP:140883127
2378+a, gdbSNP:76940692
2468+c, tdbSNP:377221075
2476+a, gdbSNP:150142198
2503+a, gdbSNP:34208235
2584+a, gdbSNP:192866240
2608+a, gdbSNP:62068502
2611+c, gdbSNP:78403542
2612+a, tdbSNP:372923963
2855+c, tdbSNP:35730151
2952+c, gdbSNP:75531939
2956+a, gdbSNP:142870821
complement(2977)-t, cdbSNP:145040503
3076+c, gdbSNP:144674022
3086+c, tdbSNP:148597914
3087+a, gdbSNP:369327572
3103+a, cdbSNP:141974248
3112+a, cdbSNP:61507207
3119+a, gdbSNP:12597637
3194+c, tdbSNP:73256087
3214+a, cdbSNP:370125652
3247+c, gdbSNP:187126304
3300+a, gdbSNP:374608817
3352+a, gdbSNP:116985242
3377+a, gdbSNP:376912020
3509..3510+, tcdbSNP:72262430
3515+, tdbSNP:57776625
3552+a, gdbSNP:191644580
3558+c, tdbSNP:150669250
Gene SymbolACSF3
Gene SynonymACSF3
Locus Map16q24.3
Title Analysis of differentially expressed genes and microRNAs in alcoholic liver disease .
Author Liu Y, Chen SH, Jin X and Li YM.
Journal Int. J. Mol. Med. 31 (3), 547-554 (2013)
Title The CBFA2T3/ACSF3 locus is recurrently involved in IGH chromosomal translocation t(14;16)(q32;q24) in pediatric B-cell lymphoma with germinal center phenotype .
Author Salaverria I, Akasaka T, Gesk S, Szczepanowski M, Burkhardt B, Harder L, Damm-Welk C, Oschlies I, Klapper W, Dyer MJ and Siebert R.
Journal Genes Chromosomes Cancer 51 (4), 338-343 (2012)
Title Mammalian ACSF3 protein is a malonyl-CoA synthetase that supplies the chain extender units for mitochondrial fatty acid synthesis .
Author Witkowski A, Thweatt J and Smith S.
Journal J. Biol. Chem. 286 (39), 33729-33736 (2011)
Title Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria .
Author Sloan JL, Johnston JJ, Manoli I, Chandler RJ, Krause C, Carrillo-Carrasco N, Chandrasekaran SD, Sysol JR, O'Brien K, Hauser NS, Sapp JC, Dorward HM, Huizing M, Barshop BA, Berry SA, James PM, Champaigne NL, de Lonlay P, Valayannopoulos V, Geschwind MD, Gavrilov DK, Nyhan WL, Biesecker LG and Venditti CP.
Journal Nat. Genet. 43 (9), 883-886 (2011)
Title Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype .
Author Alfares A, Nunez LD, Al-Thihli K, Mitchell J, Melancon S, Anastasio N, Ha KC, Majewski J, Rosenblatt DS and Braverman N.
Journal J. Med. Genet. 48 (9), 602-605 (2011)
Title Evidence for 26 distinct acyl-coenzyme A synthetase genes in the human genome .
Author Watkins PA, Maiguel D, Jia Z and Pevsner J.
Journal J. Lipid Res. 48 (12), 2736-2750 (2007)

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